Product Details

SNP ID

rs201659307

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30753289 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAGAAGGTGGCCCTCTCTGAAAA[C/G]GAAACCAGGTAAGGGTTGAGCCTGA

Phenotype

MIM: 172471 MIM: 607700

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CCDC189 PubMed Links

Gene Details

Gene

CCDC189

Gene Name

coiled-coil domain containing 189

There are no transcripts associated with this gene.

Gene

PHKG2

Gene Name

phosphorylase kinase catalytic subunit gamma 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000294.2	594	Missense Mutation	AAC,AAG	N128K	NP_000285.1
NM_001172432.1	594	Missense Mutation	AAC,AAG	N128K	NP_001165903.1

Gene

RNF40

Gene Name

ring finger protein 40

There are no transcripts associated with this gene.

Gene

TMEM265

Gene Name

transmembrane protein 265

There are no transcripts associated with this gene.

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